Canonical Allele Identifier: CA64023169
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1227753
ClinVar RCV Id: RCV001611735
dbSNP Id: rs67365959
gnomAD v2: 2-203395392-CTCT-C
gnomAD v3: 2-202530669-CTCT-C
gnomAD v4: 2-202530669-CTCT-C
MyVariant Identifiers: chr2:g.203395393_203395395del (hg19) chr2:g.202530670_202530672del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530671_202530673del , CM000664.2:g.202530671_202530673del GRCh38
NC_000002.11:g.203395394_203395396del , CM000664.1:g.203395394_203395396del GRCh37
NC_000002.10:g.203103639_203103641del NCBI36
NG_009363.1:g.159345_159347del , LRG_712:g.159345_159347del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.968-123_968-121del MANE Select ENSP00000363708.4:n.968-123_968-121del
ENST00000638587.1:c.899-123_899-121del ENSP00000491062.1:n.899-123_899-121del
ENST00000374574.2:c.968-123_968-121del ENSP00000363702.2:n.968-123_968-121del
ENST00000374580.8:c.968-123_968-121del ENSP00000363708.4:n.968-123_968-121del
NM_001204.6:c.968-123_968-121del , LRG_712t1:c.968-123_968-121del NP_001195.2:n.968-123_968-121del
XM_011511687.1:c.968-123_968-121del XP_011509989.1:n.968-123_968-121del
XM_011511688.1:c.968-123_968-121del XP_011509990.1:n.968-123_968-121del
NM_001204.7:c.968-123_968-121del MANE Select NP_001195.2:n.968-123_968-121del
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